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hypobetalipoproteinemia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypobetalipoproteinemia

MONDO:0017774

Also known as:hypo-beta-lipoproteinemia

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Overview

A group of lipoprotein metabolism disorders that are characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol.

Clinical Trials1 registered

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

No HPO annotations are available for this condition.

GeneReviews

Clinical Guidance

The clinical features of individuals with biallelic APOB-related familial hypobetalipoproteinemia (sometimes referred to as homozygous or compound heterozygous APOB-FHBL) may resemble those of abetalipoproteinemia, particularly in individuals with truncating APOB pathogenic variants shorter in length than apoB-48 (see and ). Biallelic APOB-FHBL Individuals with biallelic APOB-FHBL may present from infancy through to adulthood with a range of clinical symptoms including deficiency of fat-soluble vitamins and gastrointestinal and neurologic dysfunction. However, in contrast to abetalipoproteinemia (mean age of diagnosis 3.8 years), individuals with APOB-FHBL can have milder symptoms, and most are diagnosed in adulthood (mean age of diagnosis: 21 years) . Table 2. Biallelic APOB-Related Familial Hypobetalipoproteinemia: Frequency of Select Features Feature | Frequency

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

In this GeneReview:

Source: GeneReviews — "APOB-Related Familial Hypobetalipoproteinemia"

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for hypobetalipoproteinemia. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for APOB-related familial hypobetalipoproteinemia (APOB-FHBL) have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with or , the evaluations summarized respectively in and (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 5. Recommended Evaluations Following Initial Diagnosis in Individuals with Biallelic APOB-Related Familial Hypobetalipoproteinemia

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 8.

Recommended Surveillance for Individuals with Biallelic APOB-Related Familial Hypobetalipoproteinemia

Frequency | Evaluation

Every 6-12 mos | • Measurement of growth parameters

For any new or progressive signs/symptoms of gastrointestinal issues1

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered. Interventions under study include gene therapy. Pipeline includes 1 NA. Research is primarily sponsored by academic and government institutions.

29 publications have been identified in PubMed for hypobetalipoproteinemia. Research spans Epidemiology / Natural History (31%), Case Report / Case Series (28%), and Basic Science / Preclinical (14%).

Research Type	Count	% of Total
Disease patterns and progression	9	31%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:03 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:31154

GARD

Genetic and Rare Diseases Info Center

GARD:18802

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Differential Diagnosis

Table 4. Genes of Interest in the Differential Diagnosis of Biallelic APOB-Related Familial Hypobetalipoproteinemia

Gene	DiffDx Disorder	MOI	Features of DiffDx Disorder
Familial combined hypolipidemia	AR	Low plasma levels of LDL cholesterol	Very low plasma triglyceride HDL cholesterol levels MTTP
Abetalipoproteinemia	AR	Clinical features may resemble those of persons w/biallelic APOB-FHBL.	Mean age of diagnosis 3.8 yrs (vs persons w/biallelic APOB-FHBL: mean age of diagnosis 21 yrs)
PCSK9	Hypocholesterolemia w/reduced LDL cholesterol (OMIM 607786)	AD	Low plasma levels of LDL cholesterol
Chylomicron retention disease	AR	May be clinically similar to biallelic APOB-FHBL (failure to thrive, steatorrhea)	Chylomicrons are absent; LDL cholesterol levels are low but not absent. AD = autosomal dominant; APOB-FHBL = APOB-related familial hypobetalipoproteinemia; AR = autosomal recessive; DiffDx = differential diagnosis; MOI = mode of inheritance

Source: GeneReviews — "APOB-Related Familial Hypobetalipoproteinemia"

System/Concern	Evaluation	Comment
General	Growth parameters	To assess for poor growth Gastrointestinal
Hematologic	Complete blood count	To assess for anemia erythrocyte morphologic abnormalities, specifically acanthocytosis (a pathognomonic feature)
Ophthalmologic	Referral to ophthalmologist	For eval of visual acuity pigmentary retinopathy; Consider electroretinography.1
Neurologic	Referral to neurologist	If evidence of neurologic abnormality (e.g., ataxia, loss of deep tendon reflexes) Genetic
counseling	By genetics professionals2	To inform affected persons families re nature, MOI, implications of familial hypobetalipoproteinemia to facilitate medical personal decision making HDL = high-density lipoprotein; INR = international normalized ratio; LDL = low-density lipoprotein; MOI = mode of inheritance 1.
System/Concern	Evaluation	Comment Gastrointestinal
Treatment of Manifestations in Individuals with Biallelic APOB-Related Familial Hypobetalipoproteinemia Manifestation/Concern	Treatment	Considerations/Other
Poor growth	Ensure adequate caloric intake on a low-fat diet.	Working w/nutritionist may be helpful. Steatorrhea
Cirrhosis	Consider liver transplantation for those w/end-stage liver disease.	Fat-soluble vitamin deficiencies
Hemolysis	No treatment is typically required.	Anemia is usually mild.; Iron therapy does not improve anemia in this condition. Loss of night /or color vision
scotomas	Standard treatment per ophthalmologist	May incl optical aids
Ataxia	Assistance for coordination problems through established methods of rehab medicine OT/PT	Canes, walkers, wheelchairs are useful for gait ataxia.
Dysarthria	Speech therapy	Computer devices are available to assist persons w/severe speech deficits.

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hypobetalipoproteinemia

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

hypobetalipoproteinemia

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications